Friday, August 2, 2013

Mutants: On the Form, Varieties, and Errors of the Human Body by Armand Marie Leroi

I really enjoyed this “popular science” book—in a sense, it
was very like the territory covered by Bondeson, and like Bondeson, Leroi comes
from a science background. However, where Bondeson is (I think) a practicing
consultant as well as a university lecturer, (I think) Leroi’s background at
Imperial College (at least when he wrote the book) was more clinical
research-based.Bondeson, too, is more
interested in the narrative and “characters,” and while Leroi has an excellent
humanist wit, there is something a bit less approachable, a bit darker, about
the way he builds up his argument.Though I struggled with some of the higher science, I did learn a lot
about subjects that, as a non-scientist, I could never dream to grasp without
Leroi’s guidance.

Leroi’s argument is that we are all, in lesser or greater
degrees, mutants of the perfect human genome.We don’t know who that person is—“Who among us has the genome of
genomes, the one by which all other genomes will be judged?”—and in a sense, it
doesn’t matter.The book is about
exploring the degrees that make us less perfect that the model human
being.Most mutations, he points out,
destroy meaning—these are called “loss-of-function” mutations.This is why you can examine mutation as being
less perfect than the ideal or normal example of the type.Thus it seems the X-Men are the exception to
the rule . . . Leroi even comments that
“red hair is not good for anything at all,” pleasing, no doubt, all those
ginger-haters out there.“Whether a
given genetic sequence is a mutation rather than a polymorphism hinges on two
issues:its global frequency and its
usefulness.”Red hair, he concludes, is
neither frequent enough nor useful enough to be considered a polymorphism.

There is still something slightly sleazy about the “common”
fascination with “freaks,” and something still slightly elevated about
examining them from the scientific viewpoint.At least, I think so, and I believe that quality informs why Leroi put
one of the daughters of Petrus Gonsalvus, a hairy family (with hypertrichosis)
originally from the Canary Islands, on the cover (she has a pleasing aspect and
inside the book, Leroi compares her to a friendly cat).(On the back cover is a painting of a pair of
female conjoined twins with long red hair, which Leroi comments are rather
beautiful.)

In fact, Leroi seems rather taken by twins.He spares a few sentences for my “favorite”
pair of conjoined twins, the Biddenden Maids, but misses out others like the
Tocci Brothers.Anyway, he uses
Ritta-Christina Parodi (born in 1829) to illustrate his main points (twins
known as xipophages in France and parapagus dicephalus tetrabrachius
elsewhere).As in the case of their
unfortunate countrywoman Caroline Crachami, Ritta-Christina’s body was acquired
for science by dubious methods.Leroi is
more careful about stating fact than Bondeson, whose authoritative authorial
voice made the vagaries of science seem safely corralled.Leroi tells us that current scientific
research suggests that conjoined twins are considered nearly always
monozygotic—originating from a single egg fertilized by a single sperm (monozygotes
also account for identical twins—one embryo that has accidentally split into
two).Conjoined twins share a single
placenta and a single amniotic sac; separate twins share a single placenta but
each usually has an amniotic sac of its own.It is quite interesting to know, as well, that while 50% of separate
monozygotic twins are female, 70% of conjoined twins are female.

Perhaps the two-but-one relationship of conjoined twins
(upon which we, as individuals in individual bodies, can only speculate upon)
lends itself to poetry.Parasitical
twins, however, do not.“Some forty
cases have been described of children who have dwarfed and deformed parasites
growing from their palates . . . In 1860 a child was born in Durango, Mexico,
who had a parasite growing from his mouth to which two others were
attached.”Teratomas, such as one
described in a Roman woman in a recent edition of Archaeology Today, are tissue that are masses of hair, teeth, bone
and skin.“A Dutch child born in 1995
had the remains of twenty-one foetuses (as determined by a leg count) embedded
in its brain.”Frankly, this makes me
both incredibly grateful to have been born as well-formed as I was, and
furthermore makes me less likely to attempt to have children.Leroi gives no explanation for what causes
parasitical twins—probably because no one knows for sure.Now, who has ever watched the Doctor Who TV Movie and wondered at the
likelihood of a fictional hospital in San Francisco destroying the evidence of
a patient—who died on the operating table, so they think—having two
hearts?It was always going to look like
a fairly moronic and cynical thing to do, but even more so in light of
Kartagener’s syndrome, the earliest known example being of an old soldier who
died at Les Invalides in 1688.“Those
rare people—the best estimates put them at a frequency of 1 in 8500—who,
despite being born without a twin, have internal organs arranged the wrong way
around.”Meaning, they have a heart on
the right side (but, unlike the Doctor, no mirror image on the left side).

Leroi is very keen—as a clinical researcher would be—on animal-based
lab experiments and their insights into human mutants.Some of the experiments seem excessive, even
for the time they were performed in—Hilda Pröscholdt’s fascinating experiments
with newts in the 1920s, for example, were able to produce “conjoined-twin
newts, oriented belly to belly,” by transplanting a piece of blastopore lip,
which seemed to have the power to instruct a whole new creature.(Though contrast this with Étienne Geffroy
Saint-Hilaire’s attempt in the early 19th century which rather
lacked subtlety:“If monsters were
caused by accidents in the womb, he reasoned, it should be possible to engineer
them . . . he systematically abused developing eggs” in the Nile Valley
hatcheries “by shaking them around, perforating them, or covering them in gold
foil.”) One luckless salamander “had a
leg amputated twenty times—and grew it back each time.”

Like a scientific journal article beginning with its
literature review, Leroi begins his treatise on mutants by surveying teratology.
Partly this is to trace societal attitudes toward mutants and highlight how
difficult it can be to diagnose cases retrospectively (that does not prevent
him from trying.He makes a good case
for the Monster of Ravenna, born March 1512 and starved to death by order of
Julius II, to have been a child born with Roberts’ Syndrome[1]).Some examples are too obscure to
pinpoint.The Monster of Cracow, born in
1540, “with barking dogs’ heads mounted on its elbows, chest, and knees” died
“declaiming ‘Watch, the Lord cometh.’”Leroi finds a great deal of beauty and sometimes even sympathy in the
heretofore-categorized-callousness of our ancestors; for example, Sir Thomas
Browne wrote Pseudodoxia epidemica, or,
enquiries into very many received tenets and commonly presumed truths (1646)
and Religio medico (1642).Browne sees “the works of nature—all of them,
even the most deformed—as the works of God, and if they are the work of God
then they cannot be repugnant.”Furthermore, Leroi has great sympathy for Charles I as he witnessed
experiments into the biology of deer; “England lost a monarch with a taste for
experimental embryology, a thing not likely to occur again soon.”

I’d heard it long claimed that the origins for the Cyclops
of Homer’s myth were from prehistoric elephantoid skulls on Mediterranean
islands such as Crete; it’s been a long time since anyone suggested to me that
Cyclopic people existed.However, as
Leroi has found out, “the ease with which fetuses become cyclopic is
frightening.”It has to do with the
fusing of what should be bisected; it happens in animals as well as humans; “the
single eye of a cyclopic child is the external sign of a disorder that reaches
deep within its skull,” in fact, to the two halves of the brain.By starting from cyclopic embryos, Leroi
demonstrates the ways in which mutants of all stripes can be made from varying
doses of retinoic acid from vitamin A.He cites a 1932 experiment, “when a sow at a Texas agricultural college
that had been fed a vitamin A-deficient diet gave birth to eleven piglets all
of which lacked eyeballs.”Furthermore,
too much retinoic acid can causes problems.

Leroi often takes surprising starting points to eventually
work his way around to a scientific principle or breakthrough.For example, a small marble statue from the
ruins of Herculaneum of the god Pan raping a nanny goat brings him to discuss
supernumerary ears, because these are common in goats and show up occasionally
in humans; the sculptor, whoever he was and whatever his propensities, knew
enough about goats to depict both Pan and the rape victim with them.A girl in 1858 displayed just such appendages
and when they were amputated, they were found to be ears (though not
functioning ears, of course).This is an
example of homeosis, “in which one part of a developing embryo becomes
anomalously transformed into another.”Extra
ribs are surprisingly common—one in every ten adults has them (no less
frequently in women than in men!).

Although, as we said earlier, the majority of mutations are
“loss-of-function,” life often seems to find a way, such as with a group of
people colloquially known as Cleppies (nothing to do with, as I first surmised,
the Blue Fugates of Kentucky).Here,
too, is Leroi pulling story from disparate sources that seem, at first, to have
nothing to do with the subject at hand.The Cleppies’ legend begins in 1685 in Wigtown, Scotland, where two
religious dissenters, Margaret McLaughlin and Margaret Wilson, were drowned in
the River Bladnoch.A man named Bell was
said to shout at them as they perished, “Clep down among the partens and be
drowned!”Bell’s descendents, then, were
said to be cursed with “claws” instead of hands—they were known as the Cleppie
Bells.A family living in London in
1908, possibly related to the Bells of Wigtown, possessed “hands moulded from
birth into a claw-like deformity.”Now
called ectrodactyly, the children of the family wrote, drew, did needlework,
and most other tasks; some of the parents were cab drivers and bootmakers[2].Mammals, as Leroi states, have a good ability
to compensate for lack of limbs. Since we’ve just mentioned the Blue Fugates,
“it is impossible to keep a good myth down.In the mid-1980s two South African journalists claimed that they had
stumbled across a whole tribe of two-tod people in the darker reaches of the
Zambezi.Now websites assert that that
Wadoma worship a huge metal sphere buried in the jungle and rare, in fact,
extraterrestrials.”Our fingers and
toes, meanwhile, are formed by cell death—much as water might carve shapes into
rock.We don’t know why, however, most
vertebrates have less than five digits per limb.

Willem Vrolik occurs somewhat earlier than the discovery of
the Wadoma, his collection being bought by the University of Amsterdam at the
turn of the twentieth century.“In a
fine display of Dutch rationalism they have decided that all who wish to do so
should be allowed to see the worst for themselves,” unlike, for example, the
Gordon Museum at King’s College, upon which uneducated gawking is frowned.“And the worst is terrible indeed.Arrayed in cabinets, Vrolik’s specimens are
really quit horrifying.The gaping
mouths, sightless eyes, opened skulls, split abdomens and fused or missing
limbs seem to be the consequence of an uncontainable fury” or Eddie Campbell’s
illustrations for From Hell, perhaps.“Many of the infants that Vrolik collected
were stillborn.A neonate’s skeleton with
a melon-like forehead is a case of thanatophoric dysplasia; another whose
stunted limbs press against the walls of the jar in which he is kept has
Blomstrand’s chonododrodysplasia.There
is a cabinet containing children with acute failures in neural tube
fusion.Their backs are cleaved open and
their brains spill from their skulls.Across the gallery is a series of conjoined twins, one of which has a
parasitic twin almost as large as himself protruding from the roof of his
mouth.And next to them is a specimen
labelled ‘Arcadia amorphous,’ a skin-covered sphere with nothing to hint at the
child it almost became except for a small umbilical cord, a bit of intestine,
and the rudiments of a vertebral column.”

I don’t think I’ve seen a specimen with “Arcadia amorphous,”
but I have seen, in specimen jar, the foot of someone who suffered from
elephantism.Leroi, however, doesn’t
believe that Joseph Merrick suffered from elephantism; he prefers PTEN protein
deficiency which causes Proteus syndrome.An illustrative example, though not of Proteus syndrome but
fibrodysplasia ossificans progressiva, was Harry Eastlack.He “requested that his skeleton be kept for
scientific study, and today it stands in Philadelphia’s Mütter Museum.Bound in extra sheets, struts, and pinnacles
of bone that ramify across the limbs and ribcage, this skeleton is, in effect,
that of a forty-year-old man encased in another skeleton, but one that is
inchoate and out of control.”

There isn’t room for Leroi to discuss every kind mutant
manifestation, so the second half of the book focuses on disorders that have
affected a relatively large number of people over the ages.Achondoplastics like Joseph Boruwlaski—a
celebrated dwarf of the European courts—continue growing into their twenties,
long after most people have stopped, and suffer from a growth hormone
failure.Giants like Charles Byrne also
suffer from hormone problems; his pituitary gland was the size of a small
tomato.Did P.T. Barnum know he was
cloaking tragedy with fairy tale fantasy when he publicized the wedding of Tom
Thumb and Lavinia Warren in the 1870s?“Should a foetus inherit two copies of the achondroplasia mutation (by
virtue of having two achondroplastic parents) it, too, will die shortly after
birth with all the symptoms of thanatophoric dysplasia.”

One is tempted to suppose, however, that man proved
infinitely more cruel than nature in the case of the Ovitz Family, who had
pseudoanchondroplasia.The patriarch
Rabbi Ovitz “was renowned for his wisdom and compassion,” and his ten children,
seven of whom had pseudoanchondroplasia, became a jazz troupe after his death
in order to support themselves.Yoshko
Moskovitz “wrote to his sister that he had met a woman, small in size, but
well-endowed with talent, wisdom, and industriousness.”He and Elizabeth Ovitz soon married.However, when the family was forced to
Auschwitz, “they paid for survival by being given starring roles in [Josef]
Mengele’s bizarre and frenetic programme of experimental research. . . . As
with all he did, he reasons for doing so remains unfathomable.”

One group of people who we think of as rooted in the past
are castrati.From drawings we know they
were tall and somewhat oddly shaped.We
know anecdotally that they suffered from kyphosis, symptomatic of
osteoporosis.We can be fairly sure that
they never went bald and never had prostate cancer.“Testes, then, are not only the source of
hormonal signals that regulate gender; they are also the source of at least one
hormone that in late adolescence instructs bones to seal their growth plates
and so cease growth.”Therefore, in
1994, a Cincinnati man’s hormonal problems were corrected when he sought
medical help:he had been 5’10” on his
driving license and at the age of 28, had shot up to 6’8.”There was a mutation in his estrogen
receptor.The last Chinese court eunuch,
however, was only buried in 1996 (along with his testicles preserved in a jar, as
the Khanum threatens to do to Erik in Susan Kay’s Phantom).

If we can’t relegate eunuchs (or people with eunuch-like
symptoms) to the past, nor can we people with indeterminate physiological
genders.Through the example of Alexina
Barbin, who in 1857 became an assistant teacher in a girls’ school and began an
affair with another young schoolmistress, Leroi gives quite a tour-de-force on
proving all that you think you know about sexual organs is wrong.“Alexina was a hermaphrodite.Medicine may have recognized hermaphrodites,
but not so the law or society.A choice
had to be made, and those ovoid bodies [the doctor discovered in Alexina]
decided it.”Alexina became, to all
intents and purposes, a man, a male pseudohermaphrodite, writing an
autobiography before killing himself.Leroi comes to a stunning conclusion:the vagina is unique to females:it has no male equivalent.If you
think that sounds like an obvious statement, think again.

For example, female spotted hyenas are female
pseudohermaphrodites, in which the pathological has become normal.They copulate and give birth through the
clitoris (painfully, I might add)! Renaldus Columbus in 1559 “discovered” the
clitoris, which he called the “Sweetness of Venus,” but placed it in the
uterus.If we accept that the clitoris
is part of a larger structure called the vestibular bulbs, the anatomical
corollaries between male and female make more sense.For example, by day 28 after conception, the
human embryo has for small limb buds and a tail, and a small bump between the
lower limb buds.This is soon surrounded
by two sets of folds, one inside the other.This bump eventually makes all of our external genitalia.Differences only appear by day 63—in the
male, the genital tubercle expands and becomes the penis; in the female, it
remains small and the labia minora and labia majora form around it.

If this is all that stands in the way of, on the one hand,
making the embryo female and on the other, making it male, it seems less
remarkable that some fetuses get “caught in between.”For example, in testosterone synthesis
mutations, usually the effect is in making the foetus female at birth; the
symptoms are only picked up at puberty when the girl fails to menstruate.“The combination of feminine looks and male
height means that women without testosterone receptors are often strikingly
attractive.In the 1950s at least one
French woman with defective testosterone receptors made a living as a catwalk
model.”

Leroi is also quite interested in hair.As I said, he is slower than Bondeson to
diagnose hypertrichosis languinosa for people like Petrus Gonsalvus or
Schwe-Mong or Maphoon (and doesn’t mention Julia Pastrana, possibly because she
doesn’t fit the languinosa phenotype).But, because baldness is close to Leroi’s heart (if his author’s photo
is anything to judge by J),
he tries to get to the bottom of male pattern baldness, which affects 20% of
American men in their 20s, 50% of 30-50 year-olds, and 80% of
80-year-olds.“Balding is truly a white
man’s burden.”He discusses two quite
interesting studies:one from 1999, in
which a married pair of scientists excised a piece of dermis from his scalp and
put it on a hairless region under her arm, thus proving that the dermis “has a
voice, one that tells the epidermis:‘make follicles here.’”The
second study was done by James Hamilton in 1942, featuring 54 eunuchs, some of
whom had been born without testes, some of whom had been castrated as boys out
of medical necessity (inguinal hernias, etc), and, Leroi suspects, some of whom
were “mentally retarded men who had been castrated as boys in Kansas medical
institutions, a legacy of eugenic programmes that ran in the United States
until the 1960s.”“Women who acquire,
for whatever reason, abnormally high levels of testosterone not only grow
beards but tend to go bald as their baldness genes, hitherto silent, manifest
themselves.”

The last chapter treats aging as a disease and that we
mutate physically and mentally with old age.Leroi highlights Alexander Graham Bell’s eccentric idea to create a race
of gerontocrats (ie, a database where the longest-lived recorded their children
who should then marry and reproduce with other lineage from long-lived groups
in order to make humans live to Biblical ages).This scheme “was visionary and only slightly mad.”There is evidence, however, that these
gerontocrats would have an ever-dwindling fertility.So would it be worth it?“The only reliable way to extend the general
physiological life of a mammal is to give it no more than two-thirds of the
daily calories that it wants.”Again,
though, is it worth it?“A thousand
calories is about the minimum number needed to sustain the life of an
average-sized man, though not enough to sustain his sex drive (or, to judge by
pictures, his sex appeal).”

Mutants was an
absolutely fascinating read, and I applaud its author.

[1]
“It seems likely that it was simply a child who was born with a severe, rare,
but quite unmysterious genetic disorder . . . That, at least, would account for
the limb and genital anomalies, if not the two serpents on its waist and the
supernumerary eye on its knee.”

[2]
I saw a woman with ectrodactyly just the other day in a London theatre.